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Optimized Test Utilization Significantly Increased the Positive Detection Rate for Myeloproliferative Neoplasms
Landry E Nfonsam1,2, Melody Zhenchen Qi3, Darci T Butcher1,2
1Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON L8V 1C3, Canada.
Cancers
|July 28, 2026
Summary
Implementing clinical criteria for myeloproliferative neoplasms (MPNs) testing reduced test volumes and improved diagnostic yield. This optimization enhances laboratory efficiency for MPN molecular diagnostics.
Area of Science:
- Hematology
- Molecular Diagnostics
- Clinical Pathology
Background:
- Molecular testing for myeloproliferative neoplasms (MPNs) often lacks defined clinical criteria, leading to inefficient laboratory use and limited diagnostic value.
- Unnecessary testing can strain laboratory resources without a proportional increase in accurate diagnoses.
Purpose of the Study:
- To evaluate the impact of implementing specific clinical acceptance criteria for MPN gene testing.
- To assess changes in laboratory ordering practices and diagnostic yields following the introduction of these criteria.
Main Methods:
- A retrospective analysis of 3590 MPN test requests was conducted over a 12-month period in Hamilton, Canada.
- Clinical criteria included unexplained abnormal blood counts, thrombosis, hepatosplenomegaly, or leukoerythroblastic blood film for JAK2, CALR, MPL, and BCR::ABL1 testing.
- Testing methods transitioned from single-gene PCR to an MPN next-generation sequencing (NGS) panel during the study period.
Main Results:
- Test volumes decreased by 43% (1835 to 1050) after implementing restricted testing criteria.
- The positivity rate for MPN molecular tests increased from 12% to 17%.
- Patients with elevated platelet counts showed the highest positivity rate (35%), and JAK2 V617F was the most common mutation (73%).
Conclusions:
- Implementing pre-test clinical criteria significantly enhanced the utilization and diagnostic yield of MPN molecular testing.
- These findings support the adoption of evidence-based criteria to optimize laboratory workflows and diagnostic accuracy for MPNs.
